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About 508 results

ALLMedicine™ Charge Syndrome Center

Research & Reviews  198 results

CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007978
Nature Communications; Liu C, Xiong Q et. al.

Apr 15th, 2022 - Chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent eukaryotic chromatin remodeling enzyme, is essential for the development of organs. The mutation of CHD7 is the main cause of CHARGE syndrome, but its function and mechanism in s...

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in s...
https://doi.org/10.1016/j.ejmg.2022.104478
European Journal of Medical Genetics; Ryu JH, Kim HY et. al.

Apr 9th, 2022 - Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and microgna...

The CHARGE syndrome ortholog CHD-7 regulates TGF-β pathways in Caenorhabditis elegans.
https://doi.org/10.1073/pnas.2109508119
Proceedings of the National Academy of Sciences of the Un... Jofré DM, Hoffman DK et. al.

Apr 9th, 2022 - CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) and characterized by retarded growth and malformations in the heart and nervous system. Despite the public health rel...

CHARGE Syndrome
https://emedicine.medscape.com/article/942350-print

Mar 25th, 2022 - Practice Essentials CHARGE syndrome is an autosomal dominant genetic disorder typically caused by pathogenic variants in the chromodomain helicase DNA-binding protein-7 (CHD7) gene.[1, 2] The acronym "CHARGE" denotes the nonrandom association of c...

Cochlear Implant Outcomes in CHARGE Syndrome: Updated Perspectives.
https://doi.org/10.1097/MAO.0000000000003533
Otology & Neurotology : Official Publication of the Ameri... Kay-Rivest E, McMenomey SO et. al.

Mar 10th, 2022 - To evaluate outcomes of auditory implants in children with CHARGE syndrome and describe the evolution in management of hearing loss in this complex population. A retrospective case review was performed at a tertiary referral center. Children with ...

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Clinicaltrials.gov  1 results

Clinical and Molecular Study of CHARGE Syndrom
https://clinicaltrials.gov/ct2/show/NCT03186144

Jun 14th, 2017 - Clinical description of a French cohort of patients with CHARGE syndrome. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome Using Next generation Sequencing, try to identify other genes involved in t...

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News  4 results

Chromosomal Rearrangements Uncovered With Next-Generation Sequencing
https://www.medscape.com/viewarticle/774307

Nov 12th, 2012 - SAN FRANCISCO — Next-generation sequencing of prenatal genomes adds long-awaited precision to the determination of an association between de novo chromosomal rearrangements and known syndromes. Researchers presented an intriguing case here at the ...

Chromosomal Rearrangements Uncovered With Next-Generation Sequencing
https://www.staging.medscape.com/viewarticle/774307

Nov 12th, 2012 - SAN FRANCISCO — Next-generation sequencing of prenatal genomes adds long-awaited precision to the determination of an association between de novo chromosomal rearrangements and known syndromes. Researchers presented an intriguing case here at the ...

Undiagnosed CHARGE syndrome leads to multiple birth defects
https://www.mdedge.com/obgyn/article/61441/practice-management/undiagnosed-charge-syndrome-leads-multiple-birth-defects

Passaic County (NJ) Superior Court A baby boy was born with CHARGE syndrome, consisting of birth defects that include deformed hands, heart anomalies, and incurable cognitive impairments. The mother sued, claiming that doctors failed to note the f.

Replacement of Male Mini-Puberty
https://www.medscape.com/viewarticle/916021_2

Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...

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